Variant report

Variant	rs72668533
Chromosome Location	chr8:69681348-69681349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16935048	1.00[ASN][1000 genomes]
rs34207383	1.00[ASN][1000 genomes]
rs57043258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57996050	1.00[ASN][1000 genomes]
rs58757685	1.00[ASN][1000 genomes]
rs59404825	1.00[ASN][1000 genomes]
rs60283435	1.00[ASN][1000 genomes]
rs68191047	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999003	1.00[ASN][1000 genomes]
rs71517216	1.00[ASN][1000 genomes]
rs72652153	1.00[ASN][1000 genomes]
rs73289410	1.00[ASN][1000 genomes]
rs73683711	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73683724	1.00[ASN][1000 genomes]
rs73683725	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890986	chr8:69647914-69704366	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1017131	chr8:69676989-69792515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1814416	chr8:69678607-69683846	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69673800-69682000	Weak transcription	HSMMtube	muscle
2	chr8:69674800-69682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69675200-69686200	Weak transcription	Fetal Lung	lung
4	chr8:69680400-69682600	Weak transcription	NHLF	lung
5	chr8:69680600-69682000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:69680600-69682600	Weak transcription	HSMM	muscle
7	chr8:69680600-69682600	Weak transcription	Osteobl	bone
8	chr8:69681200-69682600	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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